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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
… Jeannine Mjoseth … A repurposed cancer drug appears to reduce the severity of … and his colleagues discovered the gene variant responsible for Proteus syndrome in 2011. "The results were so … , the same gene pathway affected in Proteus syndrome. The new study's goal in using the drug was very different from …
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… increase in heart-clogging cholesterol but the role that a smoker's genes play in their cholesterol levels has been a … Health researchers and their collaborators identified 13 new gene regions that influence cholesterol levels, some of … "This study is important because it shows that accounting for a lifestyle factor like smoking in an analysis can help …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… Steven Benowitz … The Undiagnosed Diseases Network (UDN), a clinical research initiative of the National Institutes of … Introduction of this application system sets the stage for the network to advance its core mission: to diagnose … or are unrecognized forms of more common diseases. … The new system streamlines the application process. All …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… Institutes of Health (NIH) researchers have identified a treatment that significantly decreases the risk of stroke … their findings in the April 18, 2019, issue of The New England Journal of Medicine . "Prior to this treatment, … have had zero strokes." Researchers found the treatment for DADA2 just two years after six NIH institutes and the …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, usually … in people between the ages of 20 - 30. About 25 percent of new Crohn's disease diagnoses are made in persons who are … disease are helping to increase the quality of life for people who have Crohn's disease. … The symptoms of …
News Release
As you celebrate Thanksgiving with your family, remember that this special day is also National Family Health History Day.
… of their health risks and those of their children. In the past, collecting and sharing family health information was not easy or automatic. But a free and reliable software tool, My Family Health Portrait, … Start the Conversation This Thanksgiving, start a new tradition that can help keep you and your family healthy. …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that … 25 million to 30 million Americans. … The exact cause for many rare diseases remains unknown. Still, for a … research pipeline to jump start the development of new treatments for rare and neglected disorders. … The …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, … in adolescence or early adulthood. There is no cure for the disease, but there are treatment options, including … the GARS gene and its family may provide a rich new resource for scientists investigating inherited and …
MINC
The MINC teams were made up of an administrator and an educator. They learned a lot from this initiative that they wanted to share with you.
… you consider genomics integration into nursing practice as a priority for your institution? What are the salient events that … What advice do you have for others about to engage in this effort? What other recommendations do you have? … …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell … A baby born with sickle cell disease inherits a gene for the disorder from both parents. When both parents have … but can pass the defective gene on to their children. New Treatments Prolong Life: Until recently, people with …